Genetic and expression variations of cell cycle pathway genes in brain tumor patients

The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with...

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Bibliographic Details
Published in:Bioscience reports 2020-05, Vol.40 (5)
Main Authors: Naqvi, Anum Zehra, Mahjabeen, Ishrat, Ameen, Saima, Ahmed, Malik Waqar, Khan, Asad Ullah, Akram, Zertashia, Kayani, Mahmood Akhtar
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Brain - pathology
Brain Neoplasms - genetics
Brain Neoplasms - pathology
Cancer
Cell Cycle - genetics
Cell Cycle, Growth & Proliferation
Child
Cyclin D1 - genetics
Diagnostics & Biomarkers
Down-Regulation
Female
Gene Expression Regulation, Neoplastic
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Retinoblastoma Binding Proteins - genetics
Retrospective Studies
Ubiquitin-Protein Ligases - genetics
Up-Regulation
Young Adult
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Summary:The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with adjacent control section were collected. Mutation analysis of RB1 (rs137853294, rs121913300) and CCND1 (rs614367, rs498136) genes was performed using ARMS-PCR followed by sequencing, and expression analysis was performed using real-time PCR and immunohistochemistry. The results showed homozygous mutant genotype of RB1 gene polymorphism, rs121913300 (P=0.003) and CCND1 gene polymorphism rs614367 (P=0.01) were associated significantly with brain tumor risk. Moreover, significant down-regulation of RB1 (P=0.005) and up-regulation of CCND1 (P=0.0001) gene was observed in brain tumor sections vs controls. Spearman correlation showed significant negative correlation between RB1 vs proliferation marker, Ki-67 (r = -0.291*, P
ISSN:0144-8463
1573-4935
DOI:10.1042/BSR20190629